Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2

被引：8

作者：

Sigaudy, S ^{[1
]}

Moncla, A

Fredouille, C

Bourliere, B

Lambert, JC

Philip, N

机构：

[1] Hop Enfants La Timone, Dept Med Genet, F-13385 Marseille 5, France

[2] Hop Enfants La Timone, Dept Pediat Radiol, F-13385 Marseille, France

[3] Hop Archet, Dept Med Genet, Nice, France

来源：

CLINICAL DYSMORPHOLOGY | 1998年 / 7卷 / 04期

关键词：

Stuve-Wiedemann syndrome; neonatal Schwartz-Jampel syndrome; prenatal diagnosis; skeletal dysplasia; congenital bowing of the long bones;

D O I：

10.1097/00019605-199810000-00004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two fetuses with congenital bowing of the long bones. Clinical and radiological features led us to consider two conditions: the Stuve-Wiedemann syndrome and the neonatal Schwartz-Jampel syndrome type 2. Similarities between the two syndromes are discussed. Clin Dysmorphol 7: 257-262 (C) 1998 Lippincott Williams & Wilkins.

引用

页码：257 / 262

页数：6

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